Variant report

Variant	nsv579510
Chromosome Location	chr19:40121448-40123536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:40121907-40122163	K562	blood:	n/a	n/a
2	CEBPB	chr19:40121831-40122149	MCF-7	breast:	n/a	chr19:40122043-40122054
3	CEBPB	chr19:40121911-40122159	HepG2	liver:	n/a	chr19:40122043-40122054
4	CEBPB	chr19:40121920-40122180	H1-hESC	embryonic stem cell:	n/a	chr19:40122043-40122054
5	CEBPB	chr19:40121971-40122116	K562	blood:	n/a	chr19:40122043-40122054
6	CEBPB	chr19:40121865-40122221	Hela-S3	cervix:	n/a	chr19:40122043-40122054
7	CEBPB	chr19:40121879-40122179	A549	lung:	n/a	chr19:40122043-40122054
8	EP300	chr19:40121901-40122179	Hela-S3	cervix:	n/a	n/a
9	FOS	chr19:40121887-40122179	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr19:40121869-40122176	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr19:40121882-40122115	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr19:40121986-40122096	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr19:40121839-40122079	T-47D	breast:	n/a	n/a
14	FOXA2	chr19:40121896-40122071	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:40121833-40121905	A549	lung:	n/a	n/a
16	STAT3	chr19:40121995-40122097	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr19:40121957-40122114	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr19:40121774-40122248	MCF10A-Er-Src	breast:	n/a	n/a
19	TCF7L2	chr19:40121879-40122009	PANC-1	pancreas:	n/a	n/a
20	TEAD4	chr19:40122285-40122680	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr19:40122285-40122603	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000269519	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8104520	chr19:40121448-40121449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554135200	chr19:40121488-40121489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147992123	chr19:40121538-40121539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566465284	chr19:40121542-40121543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8104655	chr19:40121551-40121552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76329318	chr19:40121563-40121564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545400472	chr19:40121566-40121567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372498065	chr19:40121602-40121603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56298129	chr19:40121639-40121640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs79689748	chr19:40121656-40121657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150912303	chr19:40121678-40121679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558635159	chr19:40121711-40121712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57483225	chr19:40121724-40121725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541169016	chr19:40121832-40121833	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577337717	chr19:40121882-40121883	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138262673	chr19:40121906-40121907	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545136471	chr19:40121941-40121942	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191650889	chr19:40121970-40121971	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572331125	chr19:40121980-40121981	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543176364	chr19:40122041-40122042	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561439544	chr19:40122068-40122069	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144008457	chr19:40122091-40122092	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs386809199	chr19:40122108-40122109	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs8101132	chr19:40122109-40122110	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372895927	chr19:40122140-40122141	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs546624439	chr19:40122153-40122154	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs532130694	chr19:40122159-40122160	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184319835	chr19:40122170-40122171	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547543258	chr19:40122211-40122212	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147264163	chr19:40122265-40122266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189445115	chr19:40122320-40122321	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548328803	chr19:40122335-40122336	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs114719165	chr19:40122339-40122340	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs557070239	chr19:40122388-40122389	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537401373	chr19:40122420-40122421	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs1985764	chr19:40122466-40122467	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571339509	chr19:40122469-40122470	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538623991	chr19:40122471-40122472	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs1985763	chr19:40122481-40122482	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572173143	chr19:40122494-40122495	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568788275	chr19:40122522-40122523	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs35439243	chr19:40122533-40122534	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs114015843	chr19:40122551-40122552	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs550955306	chr19:40122582-40122583	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs576556372	chr19:40122583-40122584	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs192437297	chr19:40122621-40122622	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs565558257	chr19:40122631-40122632	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs185630421	chr19:40122635-40122636	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs75189885	chr19:40122760-40122761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144672681	chr19:40122815-40122816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40114800-40121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:40121000-40121800	Weak transcription	Placenta	Placenta
3	chr19:40121800-40122000	Enhancers	Placenta	Placenta
4	chr19:40121800-40122200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:40121800-40122200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:40121800-40122200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:40121800-40122400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr19:40121800-40122600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr19:40122000-40122600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr19:40122000-40123000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr19:40122000-40127600	Weak transcription	Placenta	Placenta
12	chr19:40122200-40123000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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